Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.300 Biomarker group GENOMICS_ENGLAND Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 31256876 2019